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Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

Shaw KA, Cutler DJ, Okou D, et al. Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort. Genes Immun. 2019;20(2):131-142. doi:10.1038/s41435-018-0015-2

Mother-to-Infant Microbial Transmission from Different Body Sites Shapes the Developing Infant Gut Microbiome.

Ferretti P, Pasolli E, Tett A, et al. Mother-to-Infant Microbial Transmission from Different Body Sites Shapes the Developing Infant Gut Microbiome. Cell Host Microbe. 2018;24(1):133-145.e5. doi:10.1016/j.chom.2018.06.005

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, et al. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet. 2018;102(5):858-873. doi:10.1016/j.ajhg.2018.03.011

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Lessel D, Gehbauer C, Bramswig NC, et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018;141(8):2299-2311. doi:10.1093/brain/awy173

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM, Northcott PA, Buchhalter I, et al. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. 2018;19(6):785-798. doi:10.1016/S1470-2045(18)30242-0

Proteomics, Post-translational Modifications, and Integrative Analyses Reveal Molecular Heterogeneity within Medulloblastoma Subgroups.

Archer TC, Ehrenberger T, Mundt F, et al. Proteomics, Post-translational Modifications, and Integrative Analyses Reveal Molecular Heterogeneity within Medulloblastoma Subgroups. Cancer Cell. 2018;34(3):396-410.e8. doi:10.1016/j.ccell.2018.08.004

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, et al. Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018;17(8):699-708. doi:10.1016/S1474-4422(18)30215-1

Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis.

Crews CM, Lane WS, Schreiber SL. Didemnin binds to the protein palmitoyl thioesterase responsible for infantile neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A. 1996;93(9):4316-9.

Recovery from DSM-IV post-traumatic stress disorder in the WHO World Mental Health surveys.

Rosellini AJ, Liu H, Petukhova MV, et al. Recovery from DSM-IV post-traumatic stress disorder in the WHO World Mental Health surveys. Psychol Med. 2018;48(3):437-450. doi:10.1017/S0033291717001817

Chemical genetic strategy identifies histone deacetylase 1 (HDAC1) and HDAC2 as therapeutic targets in sickle cell disease.

Bradner JE, Mak R, Tanguturi SK, et al. Chemical genetic strategy identifies histone deacetylase 1 (HDAC1) and HDAC2 as therapeutic targets in sickle cell disease. Proc Natl Acad Sci U S A. 2010;107(28):12617-22. doi:10.1073/pnas.1006774107